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O60779

- S19A2_HUMAN

UniProt

O60779 - S19A2_HUMAN

Protein

Thiamine transporter 1

Gene

SLC19A2

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 135 (01 Oct 2014)
      Sequence version 2 (24 Jan 2001)
      Previous versions | rss
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    Functioni

    High-affinity transporter for the intake of thiamine.

    GO - Molecular functioni

    1. folic acid transporter activity Source: UniProtKB
    2. protein binding Source: UniProtKB
    3. thiamine transmembrane transporter activity Source: UniProtKB
    4. thiamine uptake transmembrane transporter activity Source: UniProtKB

    GO - Biological processi

    1. folic acid transport Source: GOC
    2. small molecule metabolic process Source: Reactome
    3. thiamine-containing compound metabolic process Source: Reactome
    4. thiamine transmembrane transport Source: GOC
    5. thiamine transport Source: UniProtKB
    6. vitamin metabolic process Source: Reactome
    7. water-soluble vitamin metabolic process Source: Reactome

    Keywords - Biological processi

    Transport

    Enzyme and pathway databases

    ReactomeiREACT_11117. Vitamin B1 (thiamin) metabolism.
    SABIO-RKO60779.

    Protein family/group databases

    TCDBi2.A.48.2.1. the reduced folate carrier (rfc) family.

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Thiamine transporter 1
    Short name:
    ThTr-1
    Short name:
    ThTr1
    Alternative name(s):
    Solute carrier family 19 member 2
    Thiamine carrier 1
    Short name:
    TC1
    Gene namesi
    Name:SLC19A2
    Synonyms:THT1, TRMA
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 1

    Organism-specific databases

    HGNCiHGNC:10938. SLC19A2.

    Subcellular locationi

    GO - Cellular componenti

    1. integral component of membrane Source: UniProtKB
    2. plasma membrane Source: UniProtKB

    Keywords - Cellular componenti

    Membrane

    Pathology & Biotechi

    Involvement in diseasei

    Thiamine-responsive megaloblastic anemia syndrome (TRMA) [MIM:249270]: An autosomal recessive disease characterized by megaloblastic anemia, diabetes mellitus, and sensorineural deafness. Onset is typically between infancy and adolescence, but all of the cardinal findings are often not present initially. The anemia, and sometimes the diabetes, improves with high doses of thiamine. Other more variable features include optic atrophy, congenital heart defects, short stature, and stroke.2 Publications
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti93 – 931D → H in TRMA. 1 Publication
    VAR_010249
    Natural varianti143 – 1431S → F in TRMA. 1 Publication
    VAR_010250
    Natural varianti172 – 1721G → D in TRMA. 1 Publication
    Corresponds to variant rs28937595 [ dbSNP | Ensembl ].
    VAR_010248

    Keywords - Diseasei

    Deafness, Diabetes mellitus, Disease mutation

    Organism-specific databases

    MIMi249270. phenotype.
    Orphaneti49827. Thiamine-responsive megaloblastic anemia syndrome.
    PharmGKBiPA35825.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 497497Thiamine transporter 1PRO_0000178663Add
    BLAST

    Amino acid modifications

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Modified residuei1 – 11N-acetylmethionine1 Publication
    Glycosylationi63 – 631N-linked (GlcNAc...)Sequence Analysis
    Glycosylationi314 – 3141N-linked (GlcNAc...)Sequence Analysis

    Keywords - PTMi

    Acetylation, Glycoprotein

    Proteomic databases

    MaxQBiO60779.
    PaxDbiO60779.
    PRIDEiO60779.

    PTM databases

    PhosphoSiteiO60779.

    Expressioni

    Tissue specificityi

    Ubiquitous; most abundant in skeletal and cardiac muscle. Medium expression in placenta, heart, liver and kidney, low in lung.

    Gene expression databases

    ArrayExpressiO60779.
    BgeeiO60779.
    CleanExiHS_SLC19A2.
    GenevestigatoriO60779.

    Organism-specific databases

    HPAiHPA006119.
    HPA016599.

    Interactioni

    Protein-protein interaction databases

    BioGridi115811. 3 interactions.
    IntActiO60779. 1 interaction.
    STRINGi9606.ENSP00000236137.

    Structurei

    3D structure databases

    ProteinModelPortaliO60779.
    ModBaseiSearch...
    MobiDBiSearch...

    Topological domain

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Topological domaini1 – 2828CytoplasmicSequence AnalysisAdd
    BLAST
    Topological domaini47 – 7226ExtracellularSequence AnalysisAdd
    BLAST
    Topological domaini92 – 998CytoplasmicSequence Analysis
    Topological domaini119 – 12810ExtracellularSequence Analysis
    Topological domaini150 – 16516CytoplasmicSequence AnalysisAdd
    BLAST
    Topological domaini186 – 1916ExtracellularSequence Analysis
    Topological domaini209 – 28577CytoplasmicSequence AnalysisAdd
    BLAST
    Topological domaini311 – 33727ExtracellularSequence AnalysisAdd
    BLAST
    Topological domaini355 – 3639CytoplasmicSequence Analysis
    Topological domaini381 – 3866ExtracellularSequence Analysis
    Topological domaini410 – 41910CytoplasmicSequence Analysis
    Topological domaini444 – 45512ExtracellularSequence AnalysisAdd
    BLAST
    Topological domaini480 – 49718CytoplasmicSequence AnalysisAdd
    BLAST

    Transmembrane

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Transmembranei29 – 4618HelicalSequence AnalysisAdd
    BLAST
    Transmembranei73 – 9119HelicalSequence AnalysisAdd
    BLAST
    Transmembranei100 – 11819HelicalSequence AnalysisAdd
    BLAST
    Transmembranei129 – 14921HelicalSequence AnalysisAdd
    BLAST
    Transmembranei166 – 18520HelicalSequence AnalysisAdd
    BLAST
    Transmembranei192 – 20817HelicalSequence AnalysisAdd
    BLAST
    Transmembranei286 – 31025HelicalSequence AnalysisAdd
    BLAST
    Transmembranei338 – 35417HelicalSequence AnalysisAdd
    BLAST
    Transmembranei364 – 38017HelicalSequence AnalysisAdd
    BLAST
    Transmembranei387 – 40923HelicalSequence AnalysisAdd
    BLAST
    Transmembranei420 – 44324HelicalSequence AnalysisAdd
    BLAST
    Transmembranei456 – 47924HelicalSequence AnalysisAdd
    BLAST

    Family & Domainsi

    Sequence similaritiesi

    Keywords - Domaini

    Transmembrane, Transmembrane helix

    Phylogenomic databases

    eggNOGiNOG241030.
    HOVERGENiHBG054198.
    InParanoidiO60779.
    KOiK14610.
    OMAiCGYFQVI.
    PhylomeDBiO60779.
    TreeFamiTF313684.

    Family and domain databases

    InterProiIPR002666. Folate_carrier.
    IPR016196. MFS_dom_general_subst_transpt.
    IPR028338. ThTr-1.
    [Graphical view]
    PANTHERiPTHR10686. PTHR10686. 1 hit.
    PfamiPF01770. Folate_carrier. 1 hit.
    [Graphical view]
    PIRSFiPIRSF028739. Folate_carrier. 1 hit.
    PIRSF500794. Thiamine_transporter_1. 1 hit.
    SUPFAMiSSF103473. SSF103473. 2 hits.

    Sequences (2)i

    Sequence statusi: Complete.

    This entry describes 2 isoformsi produced by alternative splicing. Align

    Isoform 1 (identifier: O60779-1) [UniParc]FASTAAdd to Basket

    This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

    « Hide

    MDVPGPVSRR AAAAAATVLL RTARVRRECW FLPTALLCAY GFFASLRPSE    50
    PFLTPYLLGP DKNLTEREVF NEIYPVWTYS YLVLLFPVFL ATDYLRYKPV 100
    VLLQGLSLIV TWFMLLYAQG LLAIQFLEFF YGIATATEIA YYSYIYSVVD 150
    LGMYQKVTSY CRSATLVGFT VGSVLGQILV SVAGWSLFSL NVISLTCVSV 200
    AFAVAWFLPM PQKSLFFHHI PSTCQRVNGI KVQNGGIVTD TPASNHLPGW 250
    EDIESKIPLN MEEPPVEEPE PKPDRLLVLK VLWNDFLMCY SSRPLLCWSV 300
    WWALSTCGYF QVVNYTQGLW EKVMPSRYAA IYNGGVEAVS TLLGAVAVFA 350
    VGYIKISWST WGEMTLSLFS LLIAAAVYIM DTVGNIWVCY ASYVVFRIIY 400
    MLLITIATFQ IAANLSMERY ALVFGVNTFI ALALQTLLTL IVVDASGLGL 450
    EITTQFLIYA SYFALIAVVF LASGAVSVMK KCRKLEDPQS SSQVTTS 497
    Length:497
    Mass (Da):55,400
    Last modified:January 24, 2001 - v2
    Checksum:i87A993E2B6FBFE96
    GO
    Isoform 2 (identifier: O60779-2) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         69-269: Missing.

    Show »
    Length:296
    Mass (Da):32,858
    Checksum:iA8C5CDFF6D54540C
    GO

    Sequence cautioni

    The sequence BAG64936.1 differs from that shown. Reason: Erroneous initiation.

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti93 – 931D → H in TRMA. 1 Publication
    VAR_010249
    Natural varianti143 – 1431S → F in TRMA. 1 Publication
    VAR_010250
    Natural varianti172 – 1721G → D in TRMA. 1 Publication
    Corresponds to variant rs28937595 [ dbSNP | Ensembl ].
    VAR_010248

    Alternative sequence

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Alternative sequencei69 – 269201Missing in isoform 2. 1 PublicationVSP_036467Add
    BLAST

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AF160812 mRNA. Translation: AAF15129.1.
    AJ238413 Genomic DNA. Translation: CAB50771.1.
    AJ237724 mRNA. Translation: CAB50770.1.
    AF135488 mRNA. Translation: AAD45985.1.
    AF158233 Genomic DNA. Translation: AAD51280.1. Sequence problems.
    AF160186 Genomic DNA. Translation: AAD51283.1. Sequence problems.
    AF160756 Genomic DNA. Translation: AAD54242.1.
    AF153330 mRNA. Translation: AAD43534.1.
    AF272359 mRNA. Translation: AAK54468.1.
    AK304021 mRNA. Translation: BAG64936.1. Different initiation.
    AK313779 mRNA. Translation: BAG36517.1.
    AK316465 mRNA. Translation: BAH14836.1.
    AL021068 Genomic DNA. Translation: CAI19780.1.
    AL021068 Genomic DNA. Translation: CAI19782.1.
    CH471067 Genomic DNA. Translation: EAW90843.1.
    CH471067 Genomic DNA. Translation: EAW90846.1.
    BC018514 mRNA. Translation: AAH18514.1.
    CCDSiCCDS1280.1. [O60779-1]
    RefSeqiNP_008927.1. NM_006996.2. [O60779-1]
    UniGeneiHs.30246.

    Genome annotation databases

    EnsembliENST00000236137; ENSP00000236137; ENSG00000117479. [O60779-1]
    ENST00000367804; ENSP00000356778; ENSG00000117479. [O60779-2]
    GeneIDi10560.
    KEGGihsa:10560.
    UCSCiuc001gge.4. human. [O60779-1]
    uc001ggf.4. human. [O60779-2]

    Keywords - Coding sequence diversityi

    Alternative splicing

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AF160812 mRNA. Translation: AAF15129.1 .
    AJ238413 Genomic DNA. Translation: CAB50771.1 .
    AJ237724 mRNA. Translation: CAB50770.1 .
    AF135488 mRNA. Translation: AAD45985.1 .
    AF158233 Genomic DNA. Translation: AAD51280.1 . Sequence problems.
    AF160186 Genomic DNA. Translation: AAD51283.1 . Sequence problems.
    AF160756 Genomic DNA. Translation: AAD54242.1 .
    AF153330 mRNA. Translation: AAD43534.1 .
    AF272359 mRNA. Translation: AAK54468.1 .
    AK304021 mRNA. Translation: BAG64936.1 . Different initiation.
    AK313779 mRNA. Translation: BAG36517.1 .
    AK316465 mRNA. Translation: BAH14836.1 .
    AL021068 Genomic DNA. Translation: CAI19780.1 .
    AL021068 Genomic DNA. Translation: CAI19782.1 .
    CH471067 Genomic DNA. Translation: EAW90843.1 .
    CH471067 Genomic DNA. Translation: EAW90846.1 .
    BC018514 mRNA. Translation: AAH18514.1 .
    CCDSi CCDS1280.1. [O60779-1 ]
    RefSeqi NP_008927.1. NM_006996.2. [O60779-1 ]
    UniGenei Hs.30246.

    3D structure databases

    ProteinModelPortali O60779.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 115811. 3 interactions.
    IntActi O60779. 1 interaction.
    STRINGi 9606.ENSP00000236137.

    Chemistry

    BindingDBi O60779.
    ChEMBLi CHEMBL3079.
    GuidetoPHARMACOLOGYi 1015.

    Protein family/group databases

    TCDBi 2.A.48.2.1. the reduced folate carrier (rfc) family.

    PTM databases

    PhosphoSitei O60779.

    Proteomic databases

    MaxQBi O60779.
    PaxDbi O60779.
    PRIDEi O60779.

    Protocols and materials databases

    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000236137 ; ENSP00000236137 ; ENSG00000117479 . [O60779-1 ]
    ENST00000367804 ; ENSP00000356778 ; ENSG00000117479 . [O60779-2 ]
    GeneIDi 10560.
    KEGGi hsa:10560.
    UCSCi uc001gge.4. human. [O60779-1 ]
    uc001ggf.4. human. [O60779-2 ]

    Organism-specific databases

    CTDi 10560.
    GeneCardsi GC01M169433.
    GeneReviewsi SLC19A2.
    HGNCi HGNC:10938. SLC19A2.
    HPAi HPA006119.
    HPA016599.
    MIMi 249270. phenotype.
    603941. gene.
    neXtProti NX_O60779.
    Orphaneti 49827. Thiamine-responsive megaloblastic anemia syndrome.
    PharmGKBi PA35825.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi NOG241030.
    HOVERGENi HBG054198.
    InParanoidi O60779.
    KOi K14610.
    OMAi CGYFQVI.
    PhylomeDBi O60779.
    TreeFami TF313684.

    Enzyme and pathway databases

    Reactomei REACT_11117. Vitamin B1 (thiamin) metabolism.
    SABIO-RK O60779.

    Miscellaneous databases

    ChiTaRSi SLC19A2. human.
    GeneWikii SLC19A2.
    GenomeRNAii 10560.
    NextBioi 40077.
    PROi O60779.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi O60779.
    Bgeei O60779.
    CleanExi HS_SLC19A2.
    Genevestigatori O60779.

    Family and domain databases

    InterProi IPR002666. Folate_carrier.
    IPR016196. MFS_dom_general_subst_transpt.
    IPR028338. ThTr-1.
    [Graphical view ]
    PANTHERi PTHR10686. PTHR10686. 1 hit.
    Pfami PF01770. Folate_carrier. 1 hit.
    [Graphical view ]
    PIRSFi PIRSF028739. Folate_carrier. 1 hit.
    PIRSF500794. Thiamine_transporter_1. 1 hit.
    SUPFAMi SSF103473. SSF103473. 2 hits.
    ProtoNeti Search...

    Publicationsi

    1. "Cloning of the human thiamine transporter, a member of the folate transporter family."
      Dutta B., Huang W., Molero M., Kekuda R., Leibach F.H., Devoe L.D., Ganapathy V., Prasad P.D.
      J. Biol. Chem. 274:31925-31929(1999) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
      Tissue: Placenta.
    2. "Mutations in SLC19A2 cause thiamine-responsive megaloblastic anaemia associated with diabetes mellitus and deafness."
      Labay V., Raz T., Baron D., Mandel H., Williams H., Barrett T., Szargel R., McDonald L., Shalata A., Nosaka K., Gregory S., Cohen N.
      Nat. Genet. 22:300-304(1999) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA / MRNA] (ISOFORM 1), VARIANT TRMA ASP-172.
    3. "The gene mutated in thiamine-responsive anaemia with diabetes and deafness (TRMA) encodes a functional thiamine transporter."
      Fleming J.C., Tartaglini E., Steinkamp M.P., Schorderet D.F., Cohen N., Neufeld E.J.
      Nat. Genet. 22:305-308(1999) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA / MRNA] (ISOFORM 1).
      Tissue: Skeletal muscle.
    4. "Mutations in a new gene encoding a thiamine transporter cause thiamine-responsive megaloblastic anaemia syndrome."
      Diaz G.A., Banikazemi M., Oishi K., Desnick R.J., Gelb B.D.
      Nat. Genet. 22:309-312(1999) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
      Tissue: Fetal brain.
    5. Subramanian V.S., Chatterjee N.S., Fleming J.C., Neufeld E.J., Said H.M.
      Submitted (MAY-2000) to the EMBL/GenBank/DDBJ databases
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
      Tissue: Colon.
    6. "Complete sequencing and characterization of 21,243 full-length human cDNAs."
      Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.
      , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.
      Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
      Tissue: Colon, Testis and Trachea.
    7. "The DNA sequence and biological annotation of human chromosome 1."
      Gregory S.G., Barlow K.F., McLay K.E., Kaul R., Swarbreck D., Dunham A., Scott C.E., Howe K.L., Woodfine K., Spencer C.C.A., Jones M.C., Gillson C., Searle S., Zhou Y., Kokocinski F., McDonald L., Evans R., Phillips K.
      , Atkinson A., Cooper R., Jones C., Hall R.E., Andrews T.D., Lloyd C., Ainscough R., Almeida J.P., Ambrose K.D., Anderson F., Andrew R.W., Ashwell R.I.S., Aubin K., Babbage A.K., Bagguley C.L., Bailey J., Beasley H., Bethel G., Bird C.P., Bray-Allen S., Brown J.Y., Brown A.J., Buckley D., Burton J., Bye J., Carder C., Chapman J.C., Clark S.Y., Clarke G., Clee C., Cobley V., Collier R.E., Corby N., Coville G.J., Davies J., Deadman R., Dunn M., Earthrowl M., Ellington A.G., Errington H., Frankish A., Frankland J., French L., Garner P., Garnett J., Gay L., Ghori M.R.J., Gibson R., Gilby L.M., Gillett W., Glithero R.J., Grafham D.V., Griffiths C., Griffiths-Jones S., Grocock R., Hammond S., Harrison E.S.I., Hart E., Haugen E., Heath P.D., Holmes S., Holt K., Howden P.J., Hunt A.R., Hunt S.E., Hunter G., Isherwood J., James R., Johnson C., Johnson D., Joy A., Kay M., Kershaw J.K., Kibukawa M., Kimberley A.M., King A., Knights A.J., Lad H., Laird G., Lawlor S., Leongamornlert D.A., Lloyd D.M., Loveland J., Lovell J., Lush M.J., Lyne R., Martin S., Mashreghi-Mohammadi M., Matthews L., Matthews N.S.W., McLaren S., Milne S., Mistry S., Moore M.J.F., Nickerson T., O'Dell C.N., Oliver K., Palmeiri A., Palmer S.A., Parker A., Patel D., Pearce A.V., Peck A.I., Pelan S., Phelps K., Phillimore B.J., Plumb R., Rajan J., Raymond C., Rouse G., Saenphimmachak C., Sehra H.K., Sheridan E., Shownkeen R., Sims S., Skuce C.D., Smith M., Steward C., Subramanian S., Sycamore N., Tracey A., Tromans A., Van Helmond Z., Wall M., Wallis J.M., White S., Whitehead S.L., Wilkinson J.E., Willey D.L., Williams H., Wilming L., Wray P.W., Wu Z., Coulson A., Vaudin M., Sulston J.E., Durbin R.M., Hubbard T., Wooster R., Dunham I., Carter N.P., McVean G., Ross M.T., Harrow J., Olson M.V., Beck S., Rogers J., Bentley D.R.
      Nature 441:315-321(2006) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    8. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    9. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
      The MGC Project Team
      Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2).
      Tissue: Eye.
    10. Cited for: ACETYLATION [LARGE SCALE ANALYSIS] AT MET-1, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
    11. "The spectrum of mutations, including four novel ones, in the thiamine-responsive megaloblastic anemia gene SLC19A2 of eight families."
      Raz T., Labay V., Baron D., Szargel R., Anbinder Y., Barrett T., Rabl W., Viana M.B., Mandel H., Baruchel A., Cayuela J.-M., Cohen N.
      Hum. Mutat. 16:37-42(2000) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANTS TRMA HIS-93 AND PHE-143.

    Entry informationi

    Entry nameiS19A2_HUMAN
    AccessioniPrimary (citable) accession number: O60779
    Secondary accession number(s): B2R9H0
    , B4E1X4, Q8WV87, Q9UBL7, Q9UKJ2, Q9UN31, Q9UN43
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: July 15, 1999
    Last sequence update: January 24, 2001
    Last modified: October 1, 2014
    This is version 135 of the entry and version 2 of the sequence. [Complete history]
    Entry statusiReviewed (UniProtKB/Swiss-Prot)
    Annotation programChordata Protein Annotation Program
    DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

    Miscellaneousi

    Keywords - Technical termi

    Complete proteome, Reference proteome

    Documents

    1. Human chromosome 1
      Human chromosome 1: entries, gene names and cross-references to MIM
    2. Human entries with polymorphisms or disease mutations
      List of human entries with polymorphisms or disease mutations
    3. Human polymorphisms and disease mutations
      Index of human polymorphisms and disease mutations
    4. MIM cross-references
      Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
    5. SIMILARITY comments
      Index of protein domains and families

    External Data

    Dasty 3